Submissions for variant NM_001849.4(COL6A2):c.510C>T (p.Cys170=)

gnomAD frequency: 0.00343  dbSNP: rs142328765

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177136	SCV000228967	benign	not specified	2015-03-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000177136	SCV000308312	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000387780	SCV000436633	benign	Collagen 6-related myopathy	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000295895	SCV000436634	likely benign	Myosclerosis	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001531976	SCV000524455	benign	not provided	2020-08-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000560821	SCV000657208	benign	Bethlem myopathy 1A	2025-02-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001531976	SCV001747330	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	COL6A2: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics	RCV002485154	SCV002803461	likely benign	Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Myosclerosis	2021-12-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003243000	SCV003950323	likely benign	Inborn genetic diseases	2023-05-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV001531976	SCV005207667	likely benign	not provided		criteria provided, single submitter	not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001531976	SCV001954454	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001531976	SCV001972272	likely benign	not provided		no assertion criteria provided	clinical testing